Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ile251Leu (p.I251L)
(
ENST00000299766.5 )
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 )
MC4R p.Ile251Leu (p.I251L) ( ENST00000299766.5 )
MC4R p.Val103Ile (p.V103I) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- A low frequency of genetic variation in the coding region of MC4R was found in Chilean obese children (Thr150Ile mutation and polymorphisms Ile251Leu and Val103Ile).
- Pubmed
- 20406574
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2010
Drugs